Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.L12F

PAX4

132 papers

RefSeq Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These g...

Pfam Domains

PAXaa 5–129UCSC'Paired box' domain
Homeodomainaa 171–227UCSCHomeodomain

Gene Aliases

HGNC Name

paired box 4

HGNC Alias Symbol

MODY9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366110.1
p.L12F
c.34C>T
Surrounding Variants
1 paper
NM_001366110.1
p.L12P
c.35T>C
1 paper
NM_001366110.1
p.F16S
c.47T>C
1 paper
NM_001366110.1
p.R20W
c.58C>T
1 paper
NM_001366110.1
p.R20insFs
c.58_59ins7
1 paper
NM_001366110.1
p.P21S
c.61C>T
1 paper
NM_001366110.1
p.L22M
c.64C>A
1 paper
NM_001366110.1
p.T26A
c.76A>G
1 paper
NM_001366110.1
p.Q28delFs
c.83delT
1 paper
NM_001366110.1
p.R32R
c.94C>A
1 paper
NM_001366110.1
p.A34fs
c.100_101fs
2 papers
NM_001366110.1
p.G37E
c.110G>A
1 paper
NM_001366110.1
p.M38delFs
c.112delT
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